MmuEX0029280 @ mm10
Exon Skipping
Gene
ENSMUSG00000026766 | Mmadhc
Description
methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria [Source:MGI Symbol;Acc:MGI:1923786]
Coordinates
chr2:50279881-50281199:-
Coord C1 exon
chr2:50281099-50281199
Coord A exon
chr2:50280573-50280654
Coord C2 exon
chr2:50279881-50280402
Length
82 bp
Sequences
Splice sites
3' ss Seq
ATTTTTTAATTTTAAGGTAGAAA
3' ss Score
-0.94
5' ss Seq
GAGGTGAGT
5' ss Score
10.03
Exon sequences
Seq C1 exon
CCTCCTGTAGTTCATCAGTGGTGCTAAGGAGATCTGCTATGCCCTTCGGGCTGAAGGATACTGGGCTGACTTCATTGACCCATCATCTGGTGTGGCAGTAA
Seq A exon
AAACAGATACTTTCTGCTTCTCAGTCAAGTACAGTGTCGTATAGACTAGAAGACTTATCTTCCTTTAGTAGAAGAGATGGAG
Seq C2 exon
TTTTTTGGACCATATACCAACAACACACTTTTTGAAACAGATGAACGGTACCGGCATTTAGGATTCTCAGTTGACGACCTTGGCTGCTGTAAAGTGATCCGTCACAGTCTCTGGGGCACTCATGTGGTTGTAGGAAGTATCTTCACTAACGCAACAGCAGACAGCAGTATCATGAGGAAGCTCAGTGGAAACTAGCAGCTGGCACTGTGATCCCTGCAGCGCTGTTTGTCTGTCATGGATTGCTCTATATAAACACTGTCATGGACAGCAGCTTCTAGAGGATTCTTGTTTCTAGGTATTTATTGTATCATTTATGGGTTTACATGGACAGGTGACTTGGGGTTTCAGAATTGCAAATGCTAGTTCCTATTCTGGAGTGCATGCTGAACACATCCATATTCTGCAAAGTGAGGTCATCAGCTTGTAACCAGGGTATGTGTGTTCTCTTAGGGTTGATTCTCCCCTTTATTGGGAAAACTTTAATTATTTTTTCCAAAAAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSMUSG00000026766-'19-22,'19-21,20-22
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
5' UTR
Show structural model
Features
Disorder rate (Iupred):
C1=NA A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NA
A:
PF102294=DUF2246=PD(6.1=50.0)
C2:
PF102294=DUF2246=PD(22.5=95.4)
Main Inclusion Isoform:
ENSMUST00000102769fB2491
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTGGGCTGACTTCATTGACCC
R:
CTACAACCACATGAGTGCCCC
Band lengths:
174-256
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Pre-implantation embryo development
- Ribosome-engaged transcriptomes of neuronal types
- Neural differentiation time course
- Muscular differentiation time course
- Spermatogenesis cell types
- Reprogramming of fibroblasts to iPSCs
- Hematopoietic precursors and cell types